Boussofara Lobna, Ghannouchi Nadia, Ghariani Najet, Denguezli Mohamed, Belajouza Colandane, Nouira Rafia
Department of Dermatology, Farhat Hached Hospital, 4002 Sousse, Tunisia.
Dermatol Online J. 2007 Jul 13;13(3):21.
Netherton's syndrome (NS) is a rare autosomal recessive disease associated with variable expressions: congenital ichthyosiform erythroderma, ichthyosis linearis circumflexa, specific hair shaft defects (trichorrhexis invaginata) and atopic diathesis. We report the case of 14-year-old non-identical twins whose diagnosis of NS was established on light microscopy of eyebrow hairs. The sisters consulted for a severe episode of atopic dermatitis. Skin examination revealed an ichthyosiform eruption with generalized, polycyclic erythematous plaques with fine double-edged scaling. The flexural creases were lichenified and multiple eczematoid patches were noted. Blood investigation revealed eosinophilia and high IgE level. Microscopy of scalp hair of the twins was repeatedly normal, but the one of the eyebrows revealed typical trichorrhexis invaginata. The presence of trichorrhexis invaginata is necessary to make the diagnosis of NS, but its identification can be difficult because this defect is variable in time and localization. The examination of eyebrow hairs is especially beneficial for patients first seen in late childhood and adults.
Netherton综合征（NS）是一种罕见的常染色体隐性疾病，具有多种表现形式：先天性鱼鳞病样红皮病、回旋状线状鱼鳞病、特定的毛干缺陷（套叠性脆发症）和特应性素质。我们报告了一对14岁非同卵双胞胎的病例，其NS诊断是通过眉毛的光学显微镜检查确定的。这对姐妹因严重的特应性皮炎发作前来咨询。皮肤检查发现鱼鳞病样皮疹，有全身性多环状红斑斑块，伴有细小的双边鳞屑。屈侧皱褶处有苔藓化，可见多个湿疹样斑块。血液检查显示嗜酸性粒细胞增多和IgE水平升高。双胞胎头皮毛发的显微镜检查多次正常，但眉毛的检查显示典型的套叠性脆发症。套叠性脆发症的存在是诊断NS所必需的，但由于这种缺陷在时间和部位上存在差异，其识别可能会很困难。对眉毛的检查对首次在儿童晚期和成人期就诊的患者特别有益。
